{"Name":"Dystonia 21","DiseaseID__c":"GARD:0017383","id":17383,"encodedName":"dystonia-21","IsDeleted":false,"Disease_Name_Full__c":"Dystonia 21","Xref_IDs__c":"C3281236; DOID:0090046; MEDGEN:482866; MONDO:0013813; OMIM:614588; ORPHA:306734","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013813","Disease_Description__c":"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.","GARD_Name__c":"Dystonia 21","GARD_Synonym__c":"dystonia type 21; dyt21; primary dystonia 21; primary dystonia dyt21 type; primary dystonia, dyt21 type","Curated_Disease_Description_Source__c":"MONDO:0013813","Curated_Disease_Description__c":"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:306734","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013813","ORPHANET_ID__c":"ORPHA:306734","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distonía primaria tipo dyt21","Spanish_Description_Source__c":"ORPHA:306734","Spanish_Description__c":"Es un subtipo de distonía mixta con una forma de distonía de torsión pura de inicio tardío.","Spanish_Disease_Name__c":"distonía primaria tipo dyt21","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.","Curated_Disease_Description_Source__c":"MONDO:0013813","GARD_Synonym__c":"dystonia type 21; dyt21; primary dystonia 21; primary dystonia dyt21 type; primary dystonia, dyt21 type","Name":"Dystonia 21","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"},{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:306734"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3281236","Source__c":"C3281236","Xref__c":"C3281236"},{"URL__c":"https://www.omim.org/entry/614588","Source__c":"C3281236; MONDO:0013813; ORPHA:306734","Xref__c":"OMIM:614588"},{"URL__c":"https://www.orpha.net/en/disease/detail/306734","Source__c":"C3281236; MONDO:0013813; ORPHA:306734","Xref__c":"ORPHA:306734"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090046","Source__c":"MONDO:0013813","Xref__c":"DOID:0090046"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482866","Source__c":"C3281236","Xref__c":"MEDGEN:482866"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716664003","Source__c":"C3281236","Xref__c":"716664003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013813","Source__c":"GARD:0017383","Xref__c":"MONDO:0013813"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000643","HPO_Synonym__c":"Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid","HPO_Name__c":"Blepharospasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002451","HPO_Name__c":"Limb dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002268","HPO_Synonym__c":"Episodic dystonia","HPO_Name__c":"Paroxysmal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia that affects all or most of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007325","HPO_Name__c":"Generalized dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012049","HPO_Synonym__c":"Spasmodic dysphonia","HPO_Name__c":"Laryngeal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of dystonia that is localized to a specific part of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004373","HPO_Name__c":"Focal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:306734","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002530","HPO_Synonym__c":"Truncal dystonia","HPO_Name__c":"Axial dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology"],"Account":["Dystonia"]},"synonyms":["dystonia type 21"," dyt21"," primary dystonia 21"," primary dystonia dyt21 type"," primary dystonia, dyt21 type"]}